The Cause Of Cystic Fibrosis

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

Cystic fibrosis (CF) is a lethal autosomal recessive disorder with a clinical incidence of 1 in every 3500 newborns1. Currently, over 4000 Canadians have CF, with 60% being adults2. In the past, CF was considered a fatal disease with a life expectancy of less than two years, however, advances in enzymatic and antibiotic therapy have greatly improved the life expectancy of patients afflicted with CF3. Currently, the median age of Canadian CF patients is 50 years2.

Cystic Fibrosis is a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

In infants symptoms include coughing, wheezing, excess mucus in the lungs, shortness of breath, extremely salty skin and decelerated growth. With infants it is very common for them to develop pneumonia infections because of all the bacteria that resides in the lungs. With treatment, most patients with cystic fibrosis live into their 20’s and 30’s, some individuals with milder cases can live longer. Death is most often due to end-stage lung disease.Thus far no cure for the disease has been found. Although, research on gene therapy is promising. Treatment is generally aimed at alleviating symptoms, preventing infections, and slowing the progress of the disorder. (Egan’s 10th Ed,

Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.

For centuries, genetic diseases have raided the planet growing stronger and mutating faster every day. Scientists have been working hard to develop concoctions to reduce the crippling effects of these diseases; if not eradicate the harsh effects of these potentially deadly genetic conditions altogether. Among these numerous life threatening genetic diseases is cystic fibrosis (CF), an inherited lifelong condition that promotes the production of thick sticky mucus causing lung infections from the entrapment of various bacteria such as Pseudomonas aeruginosa.

Cystic Fibrosis affects 1 in every 2,500 children at birth. (ncbi.nlm.nih.gov) Cystic Fibrosis, or CF, is a genetic disorder. A genetic disorder is inherited, and is contributed to by both parents. (lung.org) Each parent has one abnormal gene. (lung.org) Cystic Fibrosis is where the body can not make, or it makes an abnormal version of the CFTR protein. CFTR is also known as cystic fibrosis transmembrane regulator. There are several symptoms, and causes of Cystic Fibrosis. These symptoms are diagnosed, according to what causes CF. Cystic Fibrosis is an inherited disease, that when after diagnosed, doctors will suggest treatments to help with the condition. Cystic Fibrosis is most common in white infants, but can

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system. This disorder is among over 70,000 people worldwide, and about 30,000 just in the United States alone. Nearly half of the Cystic Fibrosis population is age 18 or older, and are normally diagnosed by age 2. Though Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease. Today the median survival age for having this disorder is close to 40 years old. To most that might seem very young, but this is a huge improvement from what it was in past years. New advances in technology makes it possible for people with this disorder to

Cystic fibrosis is a hereditary disease of the secretory glands (National Heart, Lungs, and Blood Institute[NHLBI] , "What Is Cystic Fibrosis?", 2013). People who have cystic fibrosis inherit two defective genes, one from each parent (NHLBI , "What Is Cystic Fibrosis?", 2013). The body parts affected by cystic fibrosis are the lungs, pancreas, intestines, sinuses, and sex organs (NHLBI , "What Is Cystic Fibrosis?", 2013). The gene at fault for causing cystic fibrosis is the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Genetics Home Reference, "CFTR gene", 2014). The transport of salts and chloride in and out of the cells is affected by the mutation of this gene (Cystic Fibrosis Research Inc., "About Cystic Fibrosis"). This disease most commonly affects Caucasians of North European descent (NHLBI , "What Is Cystic Fibrosis?", 2013).

Cystic Fibrosis (CF) also knows as (mucoviscidosis) is a single-gene disorders. This disorder is best described as an autosomal recessive of the exocrine glands. The disorder itself can be categorized as either pus- forming or hindering airflow. The responsible gene for this pulmonary disorder has been discovered to the be on the long part of the arm of chromosome 7 (Copstead & Banasik, 2013). Major signs and symptoms of CF will be associated with the gastrointestinal and respiratory system. We are able to diagnose CF though laboratory testing such as arterial blood measurements. Treatments for CF tend to be comprehensive including specialty physicians, nutritionists, physical and respiratory therapists and genetic counselors. Medicare

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease affecting Canadians (2). CF can affect multiple organs; however, the most fatal symptoms occur in the lung. As of 2013, the median age of survival for CF is roughly 50 years old with treatment (3). However, patient life-span decreases dramatically when treatment options such as antibiotics and enzymes are not administered, and nutritional changes or lung transplants are not made (3). Currently, there is no cure for CF, although current treatments can improve patient outcome.

Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what

Cystic Fibrosis (CF) is a disease that causes problems within the lungs and digestive systems (pancreas, livers, and intestines). It occurs due to the abnormal transport of chloride and sodium across an epithelium, leading to excessive secretion of thick mucus in these two major areas of the body. This makes breathing difficult as the thick, sticky mucus clogs the airway, and it can also result in sinus infections, poor growth, infertility, and reduced life expectancy. However, these can sometimes be treated with antibiotics and other medication, like medicated inhalers.’ It is an autosomal recessive genetic disorder and is caused by one of many different mutations in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR)’ . Because CF is a genetic disorder it is able to be inherited therefore can undergo human manipulations such as Selective Breeding and Gene Therapy.

Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.